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Journal of PeriAnesthesia Nursing
Volume 24, Issue 1
, Pages 19-34
, February 2009
Scientific Advances in the Genetic Understanding and Diagnosis of Malignant Hyperthermia
References
- Malignant Hyperthermia Association of the United States. What is malignant hyperthermia? Available at: http://www.mhaus.org/index.cfm/fuseaction/OnlineBrochures.Display/BrochurePK/8AABF3FB-13B0-430F-BE20FB32516B02D6.cfm. Accessed April 6, 2007.
- Malignant Hyperthermia Association of the United States. Home page. Available at: http://medical.mhaus.org. Accessed March 5, 2008.
- . Malignant hyperthermia (MH) guideline. In Perioperative Standards and Recommended Practices. Denver: AORN Inc; 2008;103-125
- . Malignant hyperthermia: Hot stuff. J Perianesth Nurs. 2007;22:341–345
- . Anaesthetic deaths in a family. Lancet. 1960;2:45
- Anaesthetic deaths in a family. Br J Anaesth. 1962;34:395–396
- Malignant hyperthermia of swine. Anesthesiology. 1972;36:42–51
- . Dantrolene in porcine malignant hyperthermia. Anesthesiology. 1976;44:488–495
- Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia. J Biol Chem. 1988;263:9310–9315
- . The Neuman Systems Model. 4th ed. Upper Saddle River, NJ: Prentice Hall; 2002;
- Recrudescence after survival of an initial episode of malignant hyperthermia. Anesthesiology. 1979;51:454–455
- . Malignant hyperthermia: A review of published cases. Anesth Analg. 1993;77:297–304
- Rosenberg H, Davis M, James D, et al. Malignant hyperthermia. Orpha (November 2004). Available at: http://www.orpha.net/data/patho/GB/uk-malignant-hyperthermia.pdf. Accessed April 5, 2007.
- Malignant hyperthermia and apparent heat stroke. JAMA. 2001;286:168–169
- . Prolonged malignant hyperthermia in the absence of triggering agents. Anaesth Intensive Care. 1992;20:520–523
- . Malignant hyperthermia following systemic rewarming after hypothermic cardiopulmonary bypass. Anesth Analg. 2006;102:372–375
- . Acute febrile reaction complicating spinal anaesthesia in a survivor of malignant hyperthermia. Can Anaesth Soc J. 1976;23:285–289
- . Malignant hyperthermia masked by capnographic monitoring. Anesth Analg. 1994;78:590–592
- Intraoperative hyperkalemia as a triggering mechanism or presenting sign of malignant hyperthermia in two patients with chronic renal failure. Anesthesiology. 1995;82:1518–1522
- . Differential diagnosis of malignant hyperthermia: A case report. J Am Assoc Nurs Anesth. 1995;63:455–460
- A case of suspected malignant hyperthermia during desflurane administration. Anesth Analg. 1997;85:461–462
- . Suspected recurrence of malignant hyperthermia after post-extubation shivering in the intensive care unit, 18 h after tonsillectomy. Br J Anaesth. 1999;82:945–947
- . Malignant hyperthermia-like episode in Becker muscular dystrophy. Anesthesiology. 2000;93:1535–1537
- Delayed onset of malignant hyperthermia in desflurane anesthesia. Anesth Analg. 2003;96:165–167
- . Pathologic findings in malignant hyperthermia: A case report and review of literature. Am J Forens Med Pathol. 2004;25:327–333
- A suspected case of delayed onset malignant hyperthermia with desflurane anesthesia. Anesth Analg. 2004;98:548–549
- Malignant hyperthermia in a liver transplant patient: A case report. Transplant Proc. 2007;39:3530–3532
- Case report: Minor increase of endtidal CO2 during sevoflurane-induced malignant hyperthermia. Paediatr Anaesth. 2007;17:180–182
- . In: Miller's Anesthesia, vol. 1. 6th ed. Philadelphia, PA: Churchill Livingstone; 2005;
- . Malignant hyperthermia following intravenous iodinated contrast media. Diagn Gynecol Obstet. 1981;3:81–86
- Fulminant malignant hyperthermia associated with ketoacidotic diabetic coma. Intensive Care Med. 1996;22:809–812
- A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology. 1994;80:771–779
- . Standardization of the caffeine halothane muscle contracture test. Anesth Analg. 1989;69:511–515
- Caffeine and halothane contracture testing in swine using the recommendations of the North American malignant hyperthermia group. Anesthesiology. 1990;72:71–76
- . Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. Anesthesiology. 1990;72:619–622
- . False positive diagnosis of malignant hyperthermia susceptibility in control subjects using the North American caffeine halothane contracture test. Anesthesiology. 1990;73:A1013
- . The sensitivity and specificity of the caffeine-halothane contracture test: A report from the North American malignant hyperthermia registry. [clinical investigations] Anesthesiology. 1998;88:579–588
- . Comparison of European and North American malignant hyperthermia diagnostic protocol outcomes for use in genetic studies. Anesthesiology. 1999;90:654–661
- . A protocol for the investigation of malignant hyperpyrexia. Br J Anaesth. 1984;56:1267–1269
- . Comparison between the European and North American protocols for diagnosis of malignant hyperthermia susceptibility in humans. Anesth Analag. 1999;88:1155–1160
- Malignant Hyperthermia Association of the United States. MH muscle biopsy centers (2007). Available at: http://medical.mhaus.org/index.cfm/fuseaction/Content.Display/PagePK/BiopsyTestCenters.cfm. Accessed January 29, 2008.
- The European Malignant Hyperthermia Group. MH Units (2007). Available at: http://www.emhg.org/index.php?option=com_content&;task=section&id=6&Itemid=54. Accessed January 28, 2008.
- . Testing for malignant hyperthermia. Anesthesiology. 2002;96:232–237
- Follow-up of patients tested for malignant hyperthermia susceptibility. Eur J Anaesthesiol. 2006;23:801–805
- Prediction of malignant hyperthermia susceptibility in low-risk subjects: An epidemiologic investigation of caffeine halothane contracture responses. Anesthesiology. 1992;76:16–27
- Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. Anesth Analg. 2000;91:452–457
- . False-negative results with muscle caffeine halothane contracture testing for malignant hyperthermia. Anesthesiology. 1993;79:5–9
- Chlorocresol, an additive to commercial succinylcholine, induces contracture of human malignant hyperthermia-susceptible muscles via activation of the ryanodine receptor calcium sup 2+ channel. Anesthesiology. 1996;84:1380–1385
- Chlorocresol: An activator of ryanodine receptor-mediated Ca2+ release. Mol Pharmacol. 1993;44:1192–1201
- 4-chloro-m-cresol is a trigger of malignant hyperthermia in susceptible swine. Anesthesiology. 1999;90:1733–1740
- Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males. Pediatrics. 2003;111:1447–1452
- Multicentre evaluation of in vitro contracture testing with bolus administration of 4-chloro-m-cresol for diagnosis of malignant hyperthermia susceptibility. Eur J Anaesthesiol. 2003;20:528–536
- A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility. Anesth Analg. 2000;90:200–205
- . Ryanodine: A tool for the study of contraction mechanism in muscle. Proc Western Pharmacol Soc. 1960;3:44–52
- . Effect of ryanodine on the calcium uptake system of skeletal muscle. Proc Nat Acad Sci U S A. 1962;48:807–813
- . Ryanodine contracture: A potentially specific in vitro diagnostic test for malignant hyperthermia. Br J Anaesth. 1991;66:611–613
- An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia. Anesth Analg. 1997;84:648–656
- Similar susceptibility to halothane, caffeine and ryanodine in vitro reflects pharmacogenetic variability of malignant hyperthermia. Eur J Anaesthesiol. 2004;21:151–157
- Comparative analysis of in vitro contracture tests with ryanodine and a combination of ryanodine with either halothane or caffeine: A comparative investigation in malignant hyperthermia. Acta Anaesthesiol Scand. 2004;48:1019–1027
- The ryanodine contracture test may help diagnose susceptibility to malignant hyperthermia. Can J Anesth. 2003;50:643–648
- Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. Anesthesiology. 2002;97:345–350
- . Some aspects of regulation of enzyme levels in muscle energy-supplying metabolism. Adv Enzyme Reg. 1975;13:355–377
- Pyruvate augments calcium transients and cell shortening in rat ventricular myocytes. Am J Physiol. 1998;274:H8–H17
- Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. Lancet. 2002;359:1579–1580
- The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptibility pigs. Anesth Analg. 2006;102:468–472
- Intramuscular injection of sevoflurane detects malignant hyperthermia predisposition in susceptible pigs. Anesthesiology. 2007;107:616–620
- A minimally invasive metabolic test with intramuscular injection of halothane 5 and 6 vol % to detect probands at risk for malignant hyperthermia. Anaesthesia. 2007;62:882–887
- Effects of caffeine, halothane, and 4-chloro-m-cresol on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis. Anesthesiology. 2006;104:90–100
- . Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem. 1999;274:5995–6002
- Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes. Anesthesiology. 2002;95:1052–1058
- Detection of muscle injury in humans with 31P magnetic resonance spectroscopy. Muscle Nerve. 1988;2:212–216
- Non-invasive evaluation of malignant hyperthermia susceptibility with phosphorus nuclear magnetic resonance spectroscopy. Anesthesiology. 1998;68:507–513
- A blinded comparison of noninvasive, in vivo phosphorus nuclear magenetic resonance spectroscopy and the in vitro halothane/caffeine contracture test in the evaluation of malignant hyperthermia susceptibility. Anesth Analag. 1991;72:36–47
- Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy. Anesthesiology. 1993;78:848–855
- Sup 31 phosphorus magnetic resonance spectroscopy characterization of muscular metabolid anomalies in patients with malignant hyperthermia: Application to diagnosis. Anesthesiology. 1998;88:96–107
- Abnormal ryanidine receptor channels in malignant hyperthermia. Biophys J. 1990;57:471–475
- Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990;343:559–561
- Localization of the malignant susceptibility locus to human chromosome 19q12-13.2. Nature. 1990;343:562–564
- The structural organization of the human skeletal muscle ryanodine receptor (RyR1) gene. Genomics. 1996;34:24–41
- . Malignant hyperthermia: Update on susceptibility testing. JAMA. 2005;293:2918–2924
- . Ryanodine receptor mutations in malignant hyperthermia and central core disease. Human Mutat. 2000;15:410–417
- Mutation screening in the ryanodine receptor 1 gene (RyR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: Identification of three novel mutations. Acta Anaesthesiol Scand. 2002;46:692–698
- Malignant hyperthermia in North America: Genetic screening of the three hot spots in the type I ryanodine receptor gene. Anesthesiology. 2004;101:824–830
- A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia. Anesthesiology. 1991;75:4–8
- Identification of heterozygous and homozygous individuals with the novel RyR1 mutation Cys35Arg in a large kindred. Anesthesiology. 1997;86:620–626
- Malignant hyperthermia susceptibility (MH): Prevalence of the mutation R614C in the ryanodine receptor gene on chromosome 19q13.1 in German and Austrian MH families. Am J Human Genet. 1992;51(Suppl):A213
- Discordance in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS 1 region on chromosome 19q12-13.3 comprising the C1840T transition in the RyR1 gene. Am J Human Genet. 2001;56:1334–1342
- A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991;11:751–755
- Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in vitro contracture test. Human Mol Genet. 1999;8:2055–2062
- A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Human Mol Genet. 2000;9:1515–1524
- North American malignant hyperthermia population: Screening of the ryanodine receptor gene and identification of novel mutation. Anesthesiology. 2001;95:594–599
- Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Human Mutat. 2001;18:357–358
- RyR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Human Mutat. 2002;20:88–97
- Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?. Eur J Human Genet. 2003;11:342–348
- Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet. 2002;62:80–83
- . Malignant hyperthermia in the Indian subcontinent: Non-availability of dantrolene—A cause for concern?. Internet J Anesthesiol. 2001;5:Available at http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijpharm/vol1n1/mh.xml. Accessed January 10, 2008
- Malignant hyperthermia in China. Anesth Analg. 2005;103:983–985
- Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility. Genomics. 1992;14:829–831
- Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics. 1992;14:562–566
- Localization of the gene encoding the alpha2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Human Mol Genet. 1994;3:969–975
- Mapping a further malignant hyperthermia locus to chromosome 3q13.1. Am J Human Genet. 1995;56:684–691
- Assignment of the human gene for the alpha1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Genomics. 1993;15:107–112
- Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin Genet. 2001;59:178–184
- A genome wide search for susceptibility loci in three European malignant hyperthermia pedigree. Human Mol Genet. 1997;6:953–961
- Multiple interacting gene products may influence susceptibility to malignant hyperthermia. Ann Human Genet. 2000;64:307–320
- Malignant hyperthermia in Japan: Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006;104:1146–1154
- Presence of two different genetic traits in a malignant hyperthermia families: Implications for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology. 2002;97:1067–1074
- . Investigation of malignant hyperthermia susceptibility in Denmark. Danish Med Bull. 1996;43:111–125
- Mutations in RyR1 in malignant hyperthermia and central core disease. Human Mutat. 2006;27:977–989
- Central core disease is due to RyR1 mutations in more than 90% of patients. Brain. 2006;129:1470–1480
- A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with muli-minicore disease congenital myopathy with opthalmoplegia. Human Mol Genet. 2003;12:1171–1178
- Severe multicore disease associated with reaction to anesthesia. Arch Neurol. 1985;42:1204–1206
- Multi-minicore disease with susceptibility to malignant hyperthermia in pregnancy. Gynecol Obstet Invest. 2004;58:32–35
- The risk of malignant hyperthermia in children undergoing muscle biopsy for suspected neuromuscular disorder. Pediatr Anesth. 2007;17:22–27
- . Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium. Br J Anaesth. 1975;47:62–65
- . Dantrolene in human malignant hyperthermia. Anesthesiology. 1982;56:254–262
- Dantrolene - a review of its pharmacology, therapeutic use and new developments. Anesthesia. 2004;59:364–373
- . Dantrolene: A review of its pharmacodynamic and pharmacokinetic properties and therapeutic use in malignant hyperthermia, the neuroleptic malignant syndrome and an update of its use in muscle spasticity. Drugs. 1986;32:130–168
- The Icarus effect: The influence of diluent warming on dantrolene sodium mixing time. AANA J. 2007;75:101–106
- . North American Malignant Hyperthermia Registry. Reassessment of the safety and efficacy of dantrolene. ASA Annual Meeting Abstracts. 2002;A1199
- . Azumolene, a new dantrolene analogue, antagonizes halothane and caffeine contractures: Potential for use in malignant hyperthermia. Anesthesiology. 1988;69:A419
- . Azumolene reverses episodes of malignant hyperthermia in susceptible swine. Anesth Analg. 1990;70:253–255
- Dantrolene and azumolene inhibit [3H]PN200-110 binding to porcine skeletal muscle dihidropyridine receptors. Biochem Biophys Res Commun. 1992;187:894–900
- Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor. J Biol Chem. 2006;281:33477–33486
- Effects of azumolene on normal and malignant hyperthermia-susceptible skeletal muscle. Basic Clin Pharmacol Toxicol. 2008;102:308–316
- The effect of azumolene on hypercontractility and sarcoplasmic reticulum Ca2+ dependent ATPase activity of malignant hyperpyrexia-susceptible porcine skeletal muscle. Clin Exp Pharmacol Physiol. 1991;18:489–495
PII: S1089-9472(08)00344-4
doi: 10.1016/j.jopan.2008.12.001
© 2009 American Society of PeriAnesthesia Nurses. Published by Elsevier Inc. All rights reserved.
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Journal of PeriAnesthesia Nursing
Volume 24, Issue 1
, Pages 19-34
, February 2009
